rs2522111616

This variant is located in the CD40LG gene.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter2 publications

Hyper-IgM syndrome type 1

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About CD40LG

The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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